Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R2789Q
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KMT2D

NM_003482.4:p.R2789Q

Associated Papers

Prenatal diagnosis and pregnancy outcomes in fetuses with vertebral abnormalities.

Hu J et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2025

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.

Faundes V et al.

Journal of Human Genetics, 2019

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.

Yap KL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".

Yap KL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."